Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion
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چکیده
منابع مشابه
Hereditary Persistence of Fetal Hemoglobin in Greece
By PHAEDON FESSAS AND GEORGE STAMATOYANNOPOULOS H EREDITARY PERSISTENCE of fetal hemoglobin was described in a Greek family in 1961 and included the combination of this anomaly with aand with -thalassemia.1’2 Since then, further cases or families have been observed in Greece, two of which have been reported in whole or in part in Greek medical literature.3’4 This material now permits an adequat...
متن کاملThe deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases.
The most common forms of hereditary persistence of fetal hemoglobin (HPFH) involve large deletions that remove the adult delta and beta genes but leave the paired fetal genes (G gamma and A gamma) intact. The size of these deletions has previously eluded exact definition. Using pulsed-field gel electrophoresis and the enzyme SfiI, which cuts only rarely in genomic DNA, we have constructed a lar...
متن کاملFetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia.
To determine whether hemoglobin regulation is normal in diseases affecting beta-globin gene expression, globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/beta o-thalassemia (HPFH/beta o-thal). The HPFH defect is the Ghanian type II, with a deletion from psi beta 1 to at least 20 kb 3' to beta. The beta o-thal gene has the haplotype...
متن کاملBalanced globin chain synthesis in hereditary persistence of fetal hemoglobin.
In two black families with the hereditary persistence of fetal hemoglobin (HPFH) gene there are eight A-F heterozygotes and two double heterozygotes for sickle cell trait and HPFH. These patients are clinically asymptomatic and have homogeneous acid elution smears. Measurement of globin chain synthesis in peripheral blood demonstrates balanced production of a alpha and non-alpha (beta plus gamm...
متن کاملFetal Hemoglobin Synthesis in Erythroid Cultures in Hereditary Persistence of Fetal Hemoglobin and @#{176}-Thalassemia
To determine whether hemoglobin regulation is normal in diseases affecting 1-globin gene expression. globin synthesis was examined in members of a family of a patient with hereditary persistence of fetal hemoglobin/fi#{176}-thalassemia (HPFH/$#{176}-thal). The HPFH defect is the Ghanian type II. with a deletion from t’$ to at least 20 kb 3’ to . The / #{176}-thaI gene has the haplotype II restr...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2016
ISSN: 0361-8609
DOI: 10.1002/ajh.24574